In this section, we will highlight two major side effects a patient with a mutation in the UBA5 gene may experience. 

In a study approved by Angers University Hospital Ethics Committee, a rare autosomal recessive variants in UBA5 was detected in 5 patients through WES testing. These children developed an early-onset severe neurological disorder consisting of Infantile Spasms followed by the development of intractable epilepsy, movement disorders, severe intellectual disability, acquired microcephaly, and failure to thrive. 


To be Champions for Rare disease by helping raise awareness and research dollars to provide resources for children and families in Alabama and beyond.

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